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A rare case of Swyer syndrome from Pakistan in a young girl with primary amenorrhea and 46XY genotype

Swyer syndrome is a condition where individuals with a 46XY karyotype, typically associated with males, display complete gonadal dysgenesis and lack testicular differentiation. This results from a mutation in the SRY gene, which is essential for testis development. As a consequence, affected individ...

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Detalles Bibliográficos
Autores principales:	Jawed, Inshal, Javed, Ayesha Azhar, Johar, Syeda Alisha, Mirza, Daayl N, Abdani, Ayesha A, Khan, Asad Ali
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10666715/ https://www.ncbi.nlm.nih.gov/pubmed/37994022 http://dx.doi.org/10.1177/17455057231213270

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